rs195445

Variant names:

• chr11-61976870-C-T
• rs195445

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.708 in 151,988 control chromosomes in the GnomAD database, including 38,438 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.71 (38438 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.175

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.87 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.707 AC: 107436 AN: 151870 Hom.: 38397 Cov.: 30

Gnomad AFR AF: 0.682

Gnomad AMI AF: 0.799

Gnomad AMR AF: 0.815

Gnomad ASJ AF: 0.669

Gnomad EAS AF: 0.891

Gnomad SAS AF: 0.789

Gnomad FIN AF: 0.670

Gnomad MID AF: 0.787

Gnomad NFE AF: 0.685

Gnomad OTH AF: 0.724

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.708 AC: 107536 AN: 151988 Hom.: 38438 Cov.: 30 AF XY: 0.713 AC XY: 52979 AN XY: 74272

Gnomad4 AFR AF: 0.682

Gnomad4 AMR AF: 0.815

Gnomad4 ASJ AF: 0.669

Gnomad4 EAS AF: 0.892

Gnomad4 SAS AF: 0.789

Gnomad4 FIN AF: 0.670

Gnomad4 NFE AF: 0.685

Gnomad4 OTH AF: 0.726

Alfa AF: 0.698 Hom.: 48498

Bravo AF: 0.714

Asia WGS AF: 0.846 AC: 2943 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	3.1
DANN	Benign	0.73

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs195445; hg19: chr11-61744342;